Canonical Allele Identifier: CA2582342172

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2585823
• ClinVar RCV Id: RCV003341641

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067657_43067659del , CM000679.2:g.43067657_43067659del	GRCh38
NC_000017.10:g.41219674_41219676del , CM000679.1:g.41219674_41219676del	GRCh37
NC_000017.9:g.38473200_38473202del	NCBI36
NG_005905.2:g.150325_150327del , LRG_292:g.150325_150327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5020_5022del	ENSP00000417241.2:p.Thr1674del
ENST00000470026.6:c.5023_5025del	ENSP00000419274.2:p.Thr1675del
ENST00000473961.6:c.4897_4899del	ENSP00000420201.2:p.Thr1633del
ENST00000476777.6:c.5017_5019del	ENSP00000417554.2:p.Thr1673del
ENST00000477152.6:c.4945_4947del	ENSP00000419988.2:p.Thr1649del
ENST00000478531.6:c.1711_1713del	ENSP00000420412.2:p.Thr571del
ENST00000489037.2:c.4945_4947del	ENSP00000420781.2:p.Thr1649del
ENST00000493919.6:c.1573_1575del	ENSP00000418819.2:p.Thr525del
ENST00000494123.6:c.5023_5025del	ENSP00000419103.2:p.Thr1675del
ENST00000497488.2:c.4135_4137del	ENSP00000418986.2:p.Thr1379del
ENST00000618469.2:c.5023_5025del	ENSP00000478114.2:p.Thr1675del
ENST00000634433.2:c.4900_4902del	ENSP00000489431.2:p.Thr1634del
ENST00000644379.2:c.5089_5091del	ENSP00000496570.2:p.Thr1697del
ENST00000644555.2:c.1573_1575del	ENSP00000494614.2:p.Thr525del
ENST00000652672.2:c.4882_4884del	ENSP00000498906.2:p.Thr1628del
ENST00000484087.6:c.1585_1587del	ENSP00000419481.2:p.Thr529del
ENST00000357654.9:c.5023_5025del MANE Select	ENSP00000350283.3:p.Thr1675del
ENST00000471181.7:c.5086_5088del	ENSP00000418960.2:p.Thr1696del
ENST00000644379.1:c.1410_1412del
ENST00000352993.7:c.1597_1599del	ENSP00000312236.5:p.Thr533del
ENST00000357654.7:c.5023_5025del	ENSP00000350283.3:p.Thr1675del
ENST00000461221.5:c.*4806_*4808del	ENSP00000418548.1:n.*4806_*4808del
ENST00000468300.5:c.1711_1713del	ENSP00000417148.1:p.Thr571del
ENST00000471181.6:c.5086_5088del	ENSP00000418960.2:p.Thr1696del
ENST00000472490.1:n.176_178del
ENST00000478531.5:c.1711_1713del	ENSP00000420412.1:p.Thr571del
ENST00000484087.5:c.1336_1338del	ENSP00000419481.1:p.Thr446del
ENST00000491747.6:c.1711_1713del	ENSP00000420705.2:p.Thr571del
ENST00000493795.5:c.4882_4884del	ENSP00000418775.1:p.Thr1628del
ENST00000493919.5:c.1573_1575del	ENSP00000418819.1:p.Thr525del
ENST00000586385.5:c.5-3708_5-3706del	ENSP00000465818.1:n.5-3708_5-3706del
ENST00000591534.5:c.496_498del	ENSP00000467329.1:p.Thr166del
ENST00000591849.5:c.-98-17469_-98-17467del	ENSP00000465347.1:n.-98-17469_-98-17467del
NM_007294.3:c.5023_5025del , LRG_292t1:c.5023_5025del	NP_009225.1:p.Thr1675del
NM_007297.3:c.4882_4884del	NP_009228.2:p.Thr1628del
NM_007298.3:c.1711_1713del	NP_009229.2:p.Thr571del
NM_007299.3:c.1711_1713del	NP_009230.2:p.Thr571del
NM_007300.3:c.5086_5088del	NP_009231.2:p.Thr1696del
NR_027676.1:n.5159_5161del
NM_007294.4:c.5023_5025del MANE Select	NP_009225.1:p.Thr1675del
NM_007297.4:c.4882_4884del	NP_009228.2:p.Thr1628del
NM_007299.4:c.1711_1713del	NP_009230.2:p.Thr571del
NM_007300.4:c.5086_5088del	NP_009231.2:p.Thr1696del
NR_027676.2:n.5200_5202del